Canonical Allele Identifier: CA346199922

Gene: EIF2B4

Linked Data

• dbSNP Id: rs1400485315
• gnomAD v2: 2-27590688-A-G
• gnomAD v4: 2-27367821-A-G
• MyVariant Identifiers: chr2:g.27590688A>G (hg19) ; chr2:g.27367821A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367821A>G , CM000664.2:g.27367821A>G	GRCh38
NC_000002.11:g.27590688A>G , CM000664.1:g.27590688A>G	GRCh37
NC_000002.10:g.27444192A>G	NCBI36
NG_009305.1:g.7637T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.707T>C MANE Select	ENSP00000233552.6:p.Val236Ala
ENST00000347454.8:c.707T>C	ENSP00000233552.5:p.Val236Ala
ENST00000405940.6:c.681T>C	ENSP00000384375.2:p.Gly227=
ENST00000417567.1:c.283T>C
ENST00000445933.6:c.704T>C	ENSP00000394397.2:p.Val235Ala
ENST00000451130.6:c.767T>C	ENSP00000394869.2:p.Val256Ala
ENST00000475582.5:n.2030T>C
ENST00000493344.6:c.770T>C	ENSP00000429323.1:p.Val257Ala
ENST00000616081.4:c.698T>C	ENSP00000477710.1:p.Val233Ala
ENST00000622434.4:c.662T>C	ENSP00000479991.1:p.Val221Ala
NM_001034116.1:c.707T>C	NP_001029288.1:p.Val236Ala
NM_015636.3:c.704T>C	NP_056451.3:p.Val235Ala
NM_172195.3:c.767T>C	NP_751945.2:p.Val256Ala
XM_005264632.1:c.662T>C	XP_005264689.1:p.Val221Ala
XM_006712132.1:c.659T>C	XP_006712195.1:p.Val220Ala
XM_011533147.1:c.89T>C	XP_011531449.1:p.Val30Ala
NM_001318965.1:c.770T>C	NP_001305894.1:p.Val257Ala
NM_001318966.1:c.662T>C	NP_001305895.1:p.Val221Ala
NM_001318967.1:c.614T>C	NP_001305896.1:p.Val205Ala
NM_001318968.1:c.122T>C	NP_001305897.1:p.Val41Ala
NM_001318969.1:c.89T>C	NP_001305898.1:p.Val30Ala
XM_011533147.2:c.89T>C	XP_011531449.1:p.Val30Ala
NM_001034116.2:c.707T>C MANE Select	NP_001029288.1:p.Val236Ala
NM_001318965.2:c.770T>C	NP_001305894.1:p.Val257Ala
NM_001318966.2:c.662T>C	NP_001305895.1:p.Val221Ala
NM_001318967.2:c.614T>C	NP_001305896.1:p.Val205Ala
NM_001318968.2:c.122T>C	NP_001305897.1:p.Val41Ala
NM_001318969.2:c.89T>C	NP_001305898.1:p.Val30Ala
NM_015636.4:c.704T>C	NP_056451.3:p.Val235Ala
NM_172195.4:c.767T>C	NP_751945.2:p.Val256Ala